Jaksch M, Klopstock T, Kurlemann G, Dörner M, Hofmann S, Kleinle S, Hegemann S, Weissert M, Müller-Höcker J, Pongratz D, Gerbitz K D
Institute of Clinical Chemistry, Diagnostic Molecular Biology and Mitochondrial Genetics, Academic Hospital Schwabing, Munich, Germany.
Ann Neurol. 1998 Oct;44(4):635-40. doi: 10.1002/ana.410440409.
We report seven unrelated families with mitochondrial tRNA(Ser(UCN)) gene mutations at three different loci. A novel G7497A mutation is found in two families, both of which present with progressive myopathy, ragged-red fibers, lactic acidosis, and deficiency of respiratory chain complexes I and IV. This mutation presumably affects the tertiary tRNA(Ser(UCN)) dihydrouridine interaction. Mutations 7472 insC and T7512C, found in three and two families, respectively, are associated with myoclonus epilepsy, deafness, ataxia, cognitive impairment, and complex IV deficiency. No ragged-red fibers or ultrastructural abnormalities are seen. It is interesting that 6 of our 7 index patients are apparently homoplasmic, indicating a minor pathogenetic power of the tRNA(Ser(UCN)) mutations.
我们报告了7个不相关的家族，这些家族在三个不同位点存在线粒体tRNA(Ser(UCN))基因突变。在两个家族中发现了一种新的G7497A突变，这两个家族均表现为进行性肌病、破碎红纤维、乳酸酸中毒以及呼吸链复合体I和IV缺乏。该突变可能影响tRNA(Ser(UCN))的三级二氢尿嘧啶相互作用。分别在三个和两个家族中发现的7472insC和T7512C突变与肌阵挛性癫痫、耳聋、共济失调、认知障碍和复合体IV缺乏有关。未观察到破碎红纤维或超微结构异常。有趣的是，我们7例索引患者中有6例明显为纯质体，表明tRNA(Ser(UCN))突变的致病作用较小。
